ClinVar Miner

Variants in gene MUTYH

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
101 89 618 351 34 21 1042

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary cancer-predisposing syndrome 57 33 426 264 17 0 761
MYH-associated polyposis 72 50 365 136 11 0 600
not provided 41 25 147 17 11 0 229
not specified 2 0 65 97 28 21 184
MUTYH-associated polyposis 13 10 0 0 0 1 23
Carcinoma of colon 8 1 3 1 1 0 14
MYH-associated polyposis; Pilomatrixoma; Neoplasm of stomach 6 0 8 0 0 0 14
Familial colorectal cancer 2 1 0 0 0 0 3
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas 2 0 0 0 0 0 2
Endometrial carcinoma 2 0 0 0 0 0 2
MYH-associated polyposis; Neoplasm of stomach 1 1 0 0 0 0 2
Neoplasm of stomach 2 0 0 0 0 0 2
B lymphoblastic leukemia lymphoma, no ICD-O subtype 1 0 0 0 0 0 1
Colon cancer 0 0 1 0 0 0 1
Pilomatrixoma 1 0 0 0 0 0 1
Retinoblastoma 0 0 1 0 0 0 1
Small intestine carcinoid 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 59 26 331 123 11 0 550
Ambry Genetics 49 22 326 143 9 0 549
Color 33 18 228 185 17 0 481
GeneDx 41 22 99 86 17 0 265
Counsyl 13 19 67 29 0 0 128
Integrated Genetics/Laboratory Corporation of America 12 10 57 2 4 0 85
Quest Diagnostics Nichols Institute San Juan Capistrano 13 2 51 11 5 0 80
Department of Pathology and Laboratory Medicine,Sinai Health System 20 3 13 8 5 0 49
Mendelics 11 3 30 1 0 0 45
PreventionGenetics 3 1 15 9 12 0 40
Illumina Clinical Services Laboratory,Illumina 6 3 21 1 1 0 32
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 7 0 18 0 5 0 30
ITMI 0 0 0 0 0 21 21
Biesecker Lab/Human Development Section,National Institutes of Health 2 2 10 0 5 0 19
True Health Diagnostics 2 0 5 8 2 0 17
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 0 5 0 7 0 16
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 4 0 0 4 6 0 14
Fulgent Genetics 6 0 8 0 0 0 14
Pathway Genomics 8 1 3 1 1 0 14
GeneKor MSA 2 3 9 0 0 0 14
GeneReviews 11 0 0 0 0 0 11
OMIM 9 0 0 0 0 0 9
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 2 0 1 1 5 0 9
Center for Human Genetics, Inc 2 1 2 0 0 0 5
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 1 0 2 1 1 0 5
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 1 0 3 1 0 0 5
University of Washington Department of Laboratory Medicine,University of Washington 3 1 0 1 0 0 5
Vantari Genetics 1 0 1 0 2 0 4
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 1 2 0 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 1 0 0 0 3
Molecular Oncology Laboratory,Hospital Clínico San Carlos 1 1 1 0 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 2
CSER_CC_NCGL; University of Washington Medical Center 1 0 1 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 1 1 0 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 1 0 0 0 0 2
Clinical Genomics Lab,St. Jude Children's Research Hospital 1 0 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Endocrine oncology group,Uppsala University 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Snyder Lab, Genetics Department,Stanford University 1 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 0 1 0 0 0 1

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